From Genotype to Phenotype: Molecular and Functional Characterization of the Disease-associated ID3 SNP rs11574

Christopher Henderson
The inhibitor of differentiation 3 (ID3) gene functions as a dominant negative regulator of a broadly expressed subgroup of basic-helix-loop-helix (bHLH) transcription factors known as E-proteins. ID3 regulates gene expression by binding to these E-proteins and preventing the formation of transcriptionally-active promoter complexes. Recently, a single nucleotide polymorphism (SNP) associated with cardiovascular disease was found in the coding region of ID3 at rs11574. Mutation of rs11574 from the major allele (C) to the minor allele...
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